HUM-MOLGEN archive: DIAG:4 messages

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 4 submessage(s): 1) Mouse tumorigenesis 2) Antithronbin-III deficiency 3) Jacobsen Syndrome 4) Syndromic association with Crohn's disease Carlo Gambacorti MD, Editor, Agnes Tay, MD PhD, Asst Editor Human Molecular Genetics Network Diagnostics/Clinical Research Section ************************************************************** 1) Mouse tumorigenesis Dear colleagues, Recently I have obtained a mouse chromosomal localization for a gene (named XX) which is involved in tumorigenesis in man. Because of the presence of a previously mapped (but still unknown) susceptibility gene in this chromosomal area, the gene XX is a good candidate for genes involved in susceptibility to cancer in mice. To test this gene, I am now looking for collaboration with people involved in study of tumorigenesis in mice and that have suitable mice. Any information on this topic will be useful. Thanking you in advance, Best regards Dominique Rocha ------------------------------------------------------------------- .***. .***. .***. .***. .***. * | | | * | | | * * | | | * | | | * * | | | * | | | * * | | | * * | | | * * | | | * * | | | * * | | | * * | | | * | | | * * | | | * | | | * '***' '***' '***' '***' '***' Dominique ROCHA Centre d'Immunologie de Marseille-Luminy (CIML) Parc Scientifique de Luminy - Case 906 13288 Marseille cedex 9 - France Tel. : (33) 4 91 26 94 82 Fax : (33) 4 91 26 94 30 E-mail : rocha@ciml.univ-mrs.fr =========================================================== 2) Antithronbin-III deficiency A colleague of mine has identified a family in Spain with hereditary antithrombin-III-deficiency. We would like to study the mutation causing the disease. Does anyone know of any group working on this condition (gene)?. Thanks in advance! e-mail: jose.dieguez@helsinki.fi Jose L. Dieguez Lab: Folkhalsan Institute of Genetics Folkhalsan Seniorhuset (Tutkimuskeskus) Mannerheimintie 97, 2-krs 00280-Helsinki (Finland) Tel.: 358-9-61585 559/565 Private: Amiraalinkatu 2C, 35 00160-Helsinki (Finland) Tel.: 358-9-626203 ========================================================== 3) Jacobsen Syndrome Pivnik et al (J.Med Genet. 1996, 33:772-778) reported a case Jacobsen syndrome in whom a brain stem auditory evoked response indicated moderate bilateral hearing loss. In other reports and reviews on Jacobsen syndrome that I have come across there are no indications of any hearing loss. The possible explanations are a) that hearing loss is not a common feature of this disorder b) that moderate hearing loss has not been assessed in these patients or c) that hearing loss is secondary to the craniofacial abnormalities and varies according to the severity. I would appreciate any comments or information. David C. Hughes, MRC Institute of Hearing Research, University Park, University of Nottingham, Nottingham UK NG7 2RD email: davidh@ihr.mrc.ac.uk ======================================================= 4) Syndromic association with Crohn's disease Dear Colleagues, I am interested in genetic aspects of Crohn's disease. I'll be very happy if you would generously tell me about any disorder that has a syndromic associatio n with Crohn's disease. I have read a report on a syndrome of Crohn's disease a ssociated with pachydermoperiostosis (Gastroenterology 1997:112,241). Thanks in advance. Nobuyuki Matsuhashi, M.D. nmatuha-tky@umin.u-tokyo.ac.jp The Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo. 7-3-1 Hongo, Bunkyo-ku, Tokyo 113, Japan. phone: 81-3-3815-5411 ext 3112 fax: 81-3-5802-8875